Radial club hand managed with ulnar osteotomy and centralization of hand: a case report and review

<p>Radial club hand also called radial longitudinal deficiency or radial dyspasia is a preaxial longitudinal failure of formation. As the defect is preaxial it is often associated with thumb hypoplasia or anomaly of the radial aspect of the carpus. It is diagnosed clinically and on X-rays. It is frequently syndromic so it is a must to look for associated congenital anomalies by doing a through clinical examination. The frequency of this anomaly is between 1:50000 to 1:100000 live births. The incidence of all radial ray-deficient limbs, including hypoplastic thumbs alone, is approximately 1:30000. The radial deficiency is bilateral in 50% of the cases and the male:female is 3:2. It includes a wide spectrum of disorders that encompass an absent thumb or thumb hypoplasia, a thin first metacarpal and an absent radius. We report here a 1.5 years old child with isolated type IV radial club hand without any restricted range of motion in elbow managed with osteotomy of ulna and centralization of hand.</p>

The Y14-p53 Regulatory Circuit in Megakaryocyte Differentiation and Thrombocytopenia

SUMMARYThrombocytopenia-absent radius syndrome is caused by a deletion in chromosome 1q21.1 in trans with RBM8A mutations in the noncoding regions. We generated megakaryocyte-specific Rbm8a knockout (Rbm8aKOMK) mice that exhibited marked thrombocytopenia, internal hemorrhage, and splenomegaly, indicating a disorder of platelet production. Rbm8aKOMK mice accumulated immature megakaryocytes in the bone marrow and spleen. Depletion of Y14/RBM8A in human erythroleukemia (HEL) cells inhibited phorbol ester-induced polyploidy and downregulated the signaling pathways associated with megakaryocyte maturation. Accordingly, Rbm8aKOMK mice had reduced expression of surface glycoproteins on platelets and impaired coagulation. Moreover, p53 level was increased in Y14-depleted HEL cells and Rbm8aKOMK megakaryocytes. Treatment with a p53 inhibitor restored ex vivo differentiation of Rbm8aKOMK megakaryocytes and unexpectedly activated Y14 expression in HEL cells. Knockout of Trp53 in part restored the platelet count of Rbm8aKOMK mice. These results indicate that the Y14-p53 circuit plays a critical role in megakaryocyte differentiation and platelet production.

An interesting case of Phocomelia

Authors present a very rare case of tetra-phocomelia evaluated by antenatal ultrasonography. It is a condition seen in 0.62 per 100,000 live births. This is a congenital chromosomal abnormality involving the musculoskeletal system. Primi gravida with spontaneous conception after a long period of infertility underwent early anomaly scan. Patient was not aware of the last menstrual period hence; NT scan was missed. Routine early anomaly scan done between 16-18 weeks of pregnancy diagnosed a fetus with Tetra-Phocomelia. Due to the lack of associated symptoms or significant history, our case did not fit into any specific syndrome and appears to be the result of a sporadic, non-hereditary limb deficiency involving all four limb buds. Second opinion obtained from a fetal medicine consultant who confirmed the diagnosis. Hence, decided for mid trimester termination and fetus was expelled after 8 hours. Fetus was not sent for pathological analysis. Tetra-phocomelia is a rare congenital anomaly and it may be associated with other deformity also. 1st case of phocomelia was described after the intake of thalidomide. In this condition hands and feet are seen as small flippers of a seal. The differential diagnosis includes sporadic phocomelia, Holt-Oram syndrome, thrombocytopenia-absent radius syndrome (TAR syndrome), Robert’s syndrome, and thalidomide-induced phocomelia. Here authors are presenting a rare case of Phocomelia where there is no history of drug intake or family history. This has to differentiate from thrombocytopenia-absent radius syndrome (TAR syndrome), sporadic phocomelia, Holt-Oram syndrome, Robert’s syndrome, and thalidomide-induced phocomelia.